Cited by 646Genomics and Phylogenetic StudiesRNA Research and SplicingCancer Genomics and Diagnostics

Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods

Open access
Haas, Brian J., Dobin, Alexander, Li, Bo, Stransky, Nicolas, Pochet, Nathalie, Regev, Aviv·2019·Genome biology

Abstract

BACKGROUND: Accurate fusion transcript detection is essential for comprehensive characterization of cancer transcriptomes. Over the last decade, multiple bioinformatic tools have been developed to predict fusions from RNA-seq, based on either read mapping or de novo fusion transcript assembly. RESULTS: We benchmark 23 different methods including applications we develop, STAR-Fusion and TrinityFusion, leveraging both simulated and real RNA-seq. Overall, STAR-Fusion, Arriba, and STAR-SEQR are the most accurate and fastest for fusion detection on cancer transcriptomes. CONCLUSION: The lower accuracy of de novo assembly-based methods notwithstanding, they are useful for reconstructing fusion isoforms and tumor viruses, both of which are important in cancer research.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1186/s13059-019-1842-9

Cites

76 of 76 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Haas, B. J., Dobin, A., Li, B., Stransky, N., Pochet, N., & Regev, A.
Affiliations
  • Broad Institute (US)
  • Cold Spring Harbor Laboratory (US)
  • Celsius Therapeutics (United States) (US)
Corresponding author
Haas, Brian J.
Venue
Genome biology
Published
2019-10-21
Volume
20
Issue
1
Pages
213-213
ISSN
  • 1465-6906 (ISSN-L)
  • 1474-760X
OpenAlex
W2980759299
Cited by
646
References
76
Citations by year
2026: 70 · 2025: 108 · 2024: 93 · 2023: 101 · 2022: 91 · 2021: 132 · 2020: 46 · 2019: 4
FWCI
22.54
Type
journal article
Language
en
Open access
Locations
  • Genome biology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
  • DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by)
Funders
National Cancer Institute (U24CA180922, R50CA211461, R21CA209940, U01CA214846)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Keywords
fusion transcript detection, RNA-seq, read mapping, de novo assembly, STAR-Fusion, Arriba, benchmarking, tumor transcriptome, oncogenic viruses, method accuracy
MeSH terms
Neoplasms, Software, Sequence Analysis, RNA, Benchmarking, Genomics, Gene Fusion, Transcriptome

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review